| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 835 | 2008 |
| Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia M Fichera, M Lo Giudice, M Falco, M Sturnio, S Amata, O Calabrese, ... Neurology 63 (6), 1108-1110, 2004 | 134 | 2004 |
| CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy M Elia, M Falco, R Ferri, A Spalletta, M Bottitta, G Calabrese, ... Neurology 71 (13), 997-999, 2008 | 123 | 2008 |
| A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia ML Giudice, M Neri, M Falco, M Sturnio, E Calzolari, D Di Benedetto, ... Archives of neurology 63 (2), 284-287, 2006 | 60 | 2006 |
| 6p22. 3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies D Di Benedetto, G Di Vita, C Romano, ML Giudice, GA Vitello, M Zingale, ... Molecular cytogenetics 6, 1-5, 2013 | 31 | 2013 |
| How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation E BORGIONE, MLO GIUDICE, O GALESI, L CASTIGLIA, P FAILLA, ... Journal of Medical Genetics 38 (1), e1-e1, 2001 | 26 | 2001 |
| The in cis T251I and P587L POLG1 base changes: description of a new family and literature review C Scuderi, E Borgione, F Castello, ML Giudice, S Santa Paola, ... Neuromuscular Disorders 25 (4), 333-339, 2015 | 22 | 2015 |
| Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome D Di Benedetto, SA Musumeci, E Avola, A Alberti, S Buono, C Scuderi, ... American Journal of Medical Genetics Part A 164 (8), 1923-1930, 2014 | 19 | 2014 |
| Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome E Borgione, M Sturnio, A Spalletta, M Angela Lo Giudice, L Castiglia, ... Human mutation 21 (5), 529-534, 2003 | 19 | 2003 |
| Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. M Fichera, M Falco, L Giudice, L Castiglia, V Guarnaccia, F Calì, ... Clinical genetics 67 (5), 446-447, 2005 | 15 | 2005 |
| Prenatal diagnosis of ATR‐X syndrome in a fetus with a new G> T splicing mutation in the XNP/ATR‐X gene M Fichera, M Silengo, A Spalletta, M Lo Giudice, C Romano, A Ragusa Prenatal diagnosis 21 (9), 747-751, 2001 | 13 | 2001 |
| A novel L1CAM mutation in a fetus detected by prenatal diagnosis M Piccione, F Matina, M Fichera, M Lo Giudice, G Damiani, MC Jakil, ... European journal of pediatrics 169, 415-419, 2010 | 12 | 2010 |
| Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects M Salemi, M Giambirtone, C Barone, MG Salluzzo, R Russo, ML Giudice, ... Human Cell 31 (2), 179-181, 2018 | 10 | 2018 |
| Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study M Salemi, R Cannarella, G Marchese, MG Salluzzo, M Ravo, C Barone, ... Human Cell 34, 1662-1670, 2021 | 6 | 2021 |
| The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations? E Borgione, M Lo Giudice, F Castello, SA Musumeci, FD Di Blasi, M Savio, ... Neurological Sciences 34, 1223-1226, 2013 | 2 | 2013 |
| Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex C Scuderi, E Borgione, F Castello, ML Giudice, M Fichera, M Elia, ... Mitochondrion 10 (5), 548-554, 2010 | 2 | 2010 |
| Denaturing HPLC-Based Assay for Detection of ATRX Gene Mutations M Falco, D Luciano, M Sturnio, A Spalletta, D Scionti, M Lo Giudice, ... Clinical chemistry 51 (7), 1314-1315, 2005 | 2 | 2005 |
| Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability C Scuderi, S Santa Paola, ML Giudice, FD Di Blasi, S Giusto, G Di Vita, ... Research in Autism Spectrum Disorders 100, 102084, 2023 | 1 | 2023 |
| Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? E Borgione, F Castello, M Lo Giudice, S Santa Paola, S Salvatore, G Berti, ... Neurological Sciences 37, 805-807, 2016 | 1 | 2016 |
| O-6 A muscle biopsy study in patients with Autism spectrum disorders and neuromuscular clinical signs C Scuderi, E Borgione, F Castello, S Giusto, ML Giudice, G Barbarino, ... Acta Myologica 30 (2), 160, 2011 | | 2011 |
Corrado RomanoAssociate Professor of Medical Genetics, University of CataniaGeverifieerd e-mailadres voor oasi.en.it
